rs9296044

Variant names:

• chr6-32768367-T-A
• rs9296044

Your query was ambiguous. Multiple possible variants found:

• chr6-32768367-T-A
• chr6-32768367-T-C
• chr6-32768367-T-G

Variant summary

Our verdict is Benign. The variant received -12 ACMG points: 0P and 12B. BP4_Strong BA1

The variant allele was found at a frequency of 0.502 in 151,918 control chromosomes in the GnomAD database, including 19,820 homozygotes. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.

• Frequency: Genomes: 𝑓 0.50 (19820 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.630
• Publications: 14 publications found

ACMG classification

Our verdict: Benign. The variant received -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-1.02).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.742 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	MANE	Protein	UniProt

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	TSL	MANE	Protein	Appris	UniProt

Frequencies

GnomAD3 genomes AF: 0.502 AC: 76238 AN: 151800 Hom.: 19798 Cov.: 31

Gnomad AFR AF: 0.543

Gnomad AMI AF: 0.637

Gnomad AMR AF: 0.506

Gnomad ASJ AF: 0.544

Gnomad EAS AF: 0.762

Gnomad SAS AF: 0.701

Gnomad FIN AF: 0.538

Gnomad MID AF: 0.582

Gnomad NFE AF: 0.432

Gnomad OTH AF: 0.520

We have no GnomAD4 exomes data on this position. Probably position not covered by the project.

GnomAD4 genome AF: 0.502 AC: 76311 AN: 151918 Hom.: 19820 Cov.: 31 AF XY: 0.512 AC XY: 38001 AN XY: 74236

African (AFR) AF: 0.543 AC: 22485 AN: 41420

American (AMR) AF: 0.506 AC: 7717 AN: 15260

Ashkenazi Jewish (ASJ) AF: 0.544 AC: 1884 AN: 3466

East Asian (EAS) AF: 0.762 AC: 3943 AN: 5174

South Asian (SAS) AF: 0.701 AC: 3377 AN: 4820

European-Finnish (FIN) AF: 0.538 AC: 5670 AN: 10534

Middle Eastern (MID) AF: 0.605 AC: 178 AN: 294

European-Non Finnish (NFE) AF: 0.432 AC: 29368 AN: 67934

Other (OTH) AF: 0.527 AC: 1112 AN: 2110

Alfa AF: 0.463 Hom.: 2216

Bravo AF: 0.503

Asia WGS AF: 0.701 AC: 2432 AN: 3474

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-1.0
CADD	Benign	6.4
DANN	Benign	0.23
PhyloP100		-0.63

Splicing

Find out detailed SpliceAI scores and Pangolin per-transcript scores at spliceailookup.broadinstitute.org

Other links and lift over

dbSNP: rs9296044; hg19: chr6-32736144;